Handbook of Genetic Counseling/Irregular Triple Display and Household Historical past of PKD

Handbook of Genetic Counseling/Oral-Facial-Digital Syndrome - Type 1
February 10, 2021 0 Comments

Irregular Triple Display and Household Historical past of PKD


  • What have you ever been advised about why you might be right here right this moment?
  • We wish to talk about the triple display outcomes and what they actually imply
  • We wish to get a household historical past to evaluate for some other dangers associated to being pregnant
  • We wish to discuss concerning the totally different testing choices obtainable to you.

Household historical past replace (at starting relying on stage of hysteria)[edit]

  • Who within the household has been identified with PKD?
  • What age have been they identified?
  • Do any of your loved ones members have hypertension?
  • Do some other individuals in your loved ones have kidney issues?

Medical Historical past (associated to PKD)[edit]

  • Do you see a health care provider frequently?
  • Are you presently on any treatment?
  • Have you ever had a renal ultrasound or CT scan?
  • Have you ever skilled any urinary tract infections?
  • Have you ever had hypertension?
  • Have you ever skilled any ache in your abdomen or again?

Being pregnant Historical past[edit]

  • Confirm dates
  • Any exposures?
  • Any cig/alcohol/drug use?
  • Any enhance in blood stress?
  • Any ultrasounds up to now? When is the following one scheduled?

Triple display data.[edit]

  • The check itself
    • Finest outcomes at 16-18 weeks gestation (may be executed from 15-22 weeks)
    • Checks mom’s blood
    • NOT diagnostic…merely a sign for added testing
    • Makes use of three markers to find out indicators for sure fetal issues
  • The three markers
    • produced by the fetus and the placenta
    • Alpha feto protein(AFP)
    • Human chorionic gonadotrophin (HcG)
      • Most delicate threat issue for DS
      • Higher than 2.5 MOM indicated threat for DS
    • Estriol
      • Median of 0.5 MOM in Trisomy 18

Serum markers outcomes[edit]

  • AFP >2.5 MoM signifies a traditional AFTN
  • AFP <0.75 MoM signifies a Trisomy 21

  • hCG >2.5 MoM signifies a Trisomy 21
  • hCG <0.55 MoM signifies a Trisomy 18

  • E3 <0.8 MoM signifies a Trisomy 18 or 21

Affected person’s outcomes[edit]

  • AFP =1.oo , HcG=2.21 , UE3=0.99
  • Elevated threat for Down syndrome

Clarify chromosomes and what Down syndrome is[edit]

  • Trisomy 21 (normally – each cell of physique)
  • Traits
    • psychological retardation (delicate to average)
    • coronary heart difficulties
    • ear infections
    • Do all the things a daily child can…experience a motorcycle, stroll, discuss
    • Slower to achieve milestones
    • Facial options
  • There isn’t any treatment

Calculating threat for Down Syndrome (clarify how they decide num.)[edit]

  • Take a look at maternal age + AFP MoM + hCG MoM + uE3 MoM = Down Syndrome Danger
  • Danger ³ 1/270 is taken into account display optimistic
    • This is the same as the midtrimester DSR for 35 year-old ladies
    • AMA girl’s threat could also be made much less by the triple display outcomes, however it’s nonetheless thought-about a check optimistic due to her age.

Suggestions for irregular assessments[edit]

  • Ultrasound for examination of bodily abnormalities
    • Down Syndrome
      • Nuchal fold (2nd trimester)
      • Nuchal translucency (1st trimester)
      • Brief femur/humerus (detects 80-90% when mixed with one of many following two)
      • Echogenic bowel
      • Brief ear
  • Amniocentesis
    • Clarify process
    • 1/200 threat for problems
    • Cannot detect all issues with the infant BUT will decide chromosome standing
    • Fetal karyotype
      • Down Syndrome
      • Triploidy
      • Trisomies 13, 18
      • Different chromosomal abnormalities

The Fundamentals of PKD[edit]

  • Definition (Polycystic Kidney Illness)
    • A number of cysts within the kidney resulting in kidney dysfunction
  • Prevalence = 1/400 – 1/1000
  • Traits
    • 90% penetrant
    • preliminary indicators = hypertension, blood in urine (50%), ache in aspect, again or stomach, UTI, kidney stones (20-30%)
    • Last stage = renal failure (60%) after age 40
    • Mitral valve prolaspse (26% in comparison with gen pop 2-3%)
    • aneurysms (5-10%) – happens in familial clusters
    • liver cysts are doable
  • Prognosis/medical administration
    • renal ultrasounds
      • solely after age 30 is a adverse ultrasound = 5% threat of illness
    • computed tomography (CT) – to detect aneurysm
    • MRI
  • Prevention
    • Food plan management = keep away from crimson meat, eat low protein food plan, much less salt, recent fruits and veggies, drink plenty of water, keep away from caffeine
  • Therapy
    • For ache
      • acetaminophren might assist
      • laparoscopic surgical procedure to “unroof” cysts
    • For renal failure
      • dialysis
      • renal transplant (75-80% of kidneys work for five years)
  • Inheritance (dominant extra generally – recessive is RARE)
    • Description of autosomal dominant and why that is the sort
    • Probability of recurrence if the mom has it = 50% likelihood
    • Probability of recurrence if the mom does not have it identical as inhabitants threat= <1%???? roughly 10% of the PKD affected person group turned contaminated by means of spontaneous mutation, and never by means of inheritance.
  • Genetics
    • Two genes recognized (a 3rd suspected)
    • PKD1 – 16p (90% of PKD) DX is earlier, progresses extra quickly, extra more likely to be hypertensive
    • PKD2 – chromosome 4
    • Testing is finished by means of linkage

Her choices[edit]

  • A amniocentesis for chromosome threat
  • A renal ultrasound for herself (PKD surveillance)
    • Whether it is adverse and she or he is 30+, likelihood of getting PKD is <5%
  • Testing by linkage evaluation for herself and household
    • Prices approx. $2200 per household
    • >95% correct in households
  • Prenatal dedication (ideally after linkage has been established)
    • CVS testing for linkage research (9-15 weeks)
    • Amniocentesis for linkage research (15+ weeks)

Psychosocial points[edit]

  • How her brothers sickness has affected her
  • Scared about the potential for having PKD?
  • Frightened about PKD for child?
  • Would a analysis of PKD affect a being pregnant resolution?
  • How would having a toddler with DS really feel?
  • Assist and assets at dwelling?
  • Would the dx of DS affect being pregnant planning?

Sources for affected person[edit]

The data on this define has not been up to date since 2003.

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